A RE-INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

ABSTRACT. Eeg-Olofsson, O. and Liedgren, S. (Departments of Paediatrics and Gynaecology and Obstetrics, University Hospital, Linköping, Sweden). A re-investigation of an inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand, 70:575,.–An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13–15 and a 4–5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13–15 chromosome was found. A 6–12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.